Variant report

Variant	rs229613
Chromosome Location	chr14:65295053-65295054
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1006613	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11623771	1.00[JPT][hapmap]
rs17826231	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs189087	1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs229614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229617	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs444583	0.92[CHD][hapmap]
rs72726215	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8017631	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693408	chr14:65292670-65358576	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs229613	CHURC1	cis	multi-tissue	Pritchard

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65289800-65295200	Enhancers	Left Ventricle	heart
2	chr14:65290000-65295200	Enhancers	Psoas Muscle	Psoas
3	chr14:65291000-65295600	Enhancers	Fetal Muscle Leg	muscle
4	chr14:65291600-65296000	Enhancers	K562	blood
5	chr14:65292000-65297800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:65292600-65297800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:65293600-65295600	Enhancers	HSMMtube	muscle
8	chr14:65293600-65297400	Weak transcription	Fetal Heart	heart
9	chr14:65294000-65297800	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr14:65294400-65295200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:65294600-65295200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr14:65294600-65295200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:65294600-65295200	Enhancers	Right Atrium	heart
14	chr14:65294800-65295200	Enhancers	Right Ventricle	heart
15	chr14:65294800-65295200	Enhancers	NHEK	skin
16	chr14:65294800-65296200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr14:65294800-65297600	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr14:65294800-65297800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr14:65295000-65296000	Enhancers	Skeletal Muscle Female	skeletal muscle

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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